Mutation Details for c.927delC

cDNA Name

c.927delC

Protein Name

p.Phe310SerfsX18

Exon or Intron

exon 8

Legacy Exon or Intron

exon 7

Legacy Name

1058delC

Other Details

The above mutation was detected by SSCP and identified by direct DNA sequencing. 1058delC was detected only once in 200 non-[delta]F508 chromosomes screened; the patient has [delta]F508 on the other chromosome.

Contributors

Malone G,
Hawworth A,
Schwarz M
1995-07-03

Institute

Royal Manchester Children's Hospital,
England

Submitted Phenotype Details

2 patients, one female, one male, both carrying delF508 on the other allele.
(pers.corr.Schwarz)

Reference

Malone et al. (NL#66)

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011